Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.R30*
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CLCNKB

NM_000085.5:p.R30*

Associated Papers

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.

Peces R et al.

Clinical Kidney Journal, 2021

34345425 (PubMed )
Supplement: sfab083_supplementary_data.zip › Supplementary_material.docx

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Bartter syndrome with long-term follow-up: a case report.

Wu X et al.

The Journal of International Medical Research, 2020

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.

Han Y et al.

Endocrine, 2020

Mutation spectrum of Chinese patients with Bartter syndrome.

Han Y et al.

Oncotarget, 2017

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Li L et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.

Yu Y et al.

Clinical Genetics, 2010

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